Canonical Allele Identifier: CA2275255351

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919946_74919949delinsACCT , CM000679.2:g.74919946_74919949delinsACCT	GRCh38
NC_000017.10:g.72916041_72916044delinsACCT , CM000679.1:g.72916041_72916044delinsACCT	GRCh37
NC_000017.9:g.70427636_70427639delinsACCT	NCBI36
NG_007882.1:g.8308_8311delinsAGGT
NG_033062.1:g.672_675delinsACCT
NG_007882.2:g.8315_8318delinsAGGT
NG_033062.2:g.672_675delinsACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.887_890delinsAGGT MANE Select	ENSP00000480279.1:p.Glu296=
ENST00000579243.1:c.*486_*489delinsAGGT	ENSP00000462568.1:n.*486_*489delinsAGGT
ENST00000614341.4:c.887_890delinsAGGT	ENSP00000480279.1:p.Glu296=
NM_001282489.2:c.578_581delinsAGGT	NP_001269418.1:p.Glu193=
NM_173477.4:c.887_890delinsAGGT	NP_775748.2:p.Glu296=
XM_011524296.1:c.578_581delinsAGGT	XP_011522598.1:p.Glu193=
XM_011524296.2:c.578_581delinsAGGT	XP_011522598.1:p.Glu193=
NM_173477.5:c.887_890delinsAGGT MANE Select	NP_775748.2:p.Glu296=
NM_001282489.3:c.578_581delinsAGGT	NP_001269418.1:p.Glu193=